EVALUATING THE DELETION AND POINT MUTATIONS OF THE SMN1 GENE IN PATIENTS WITH SPINAL MUSCULAR ATROPHY (SMA) IN WEST AZERBAIJAN PROVINCE OF IRANMORTEZA BAGHERI , ISA ABDIRAD , AHAD GHAZAVIPages 474-480Abstract Full Text [PDF 327KB]

Background & Aims

Spinal muscular atrophy (SMA) is a common disorder with autosomal recessive inheritance pattern. The frequency of carriers of this disease is one in forty to one in sixty. SMA occurs in 98% of cases due to the homozygous deletion of SMN1 exons 7 and 8. The purpose of this study was to evaluating the deletion and point mutations of the SMN1 gene in patients with SMA in west Azerbaijan province of Iran.

Materials & Methods

A total of 50 patients with SMA were referred to the Genetic Department after clinical diagnosis for molecular evaluation and genetic counseling. Genomic DNA was extracted from blood samples. The exclusion rate of exons 7 and 8 in the neuronal survival gene 1 was determined by using the PCR-RFLP.

Results

Deletion of exons 7 and 8 were observed in 98% of the studied cases (49 out of 50 cases). In one patient، the sequencing of exon 5 showed homozygote mutation c.549 del C (p.Lys184ser fs 29) (point mutation).

Conclusion

The evaluation of the presence or absence of exons 7 and 8 of the SMN1 gene، as well as point mutations in SMN1 gene in patients suspected of musculoskeletal atrophy، is effective in confirming the clinical diagnosis and subsequent genetic counseling

puberty is a process in which physical and physiological changes lead to changes in the child's body as an adult with reproductive capacity. The purpose of the present study was to investigate the effect of 12 weeks of moderate intensity aerobic training on serum leptin، growth hormone / Insulin-Like Growth Factor-1، in Mature and immature Inactive Girl Students.

Materials & Methods

40 non-athlete girl students aged 10 to 15 years were matched according to Tanner scale at stages 1، 2 and 3، 4 of puberty and each group was divided into two experimental and control groups. Experimental groups (n = 20) performed 3 sessions per week for 12 weeks، each session performed aerobic training with 45-65% of maximal heart rate for 45 minutes، control groups (20 subjects) in no intervention they did not attend. Blood samples were measured before and after the exercise training. For data analysis، Kolmogorov-Smirnov test (k-s)، Leven test، ANCOVA، and P-value <0.05 were used for data analysis.

Results

In experimental groups compared with control groups، after 12 weeks of aerobic training، a significant decrease in leptin and Insulin-Like Growth Factor-1 (P <0.001) and a significant increase in growth hormone (P <0.001) was observed.

Conclusion

See also، moderate-intensity aerobic training appears to have resulted in significant changes in the hormonal indices that are effective in puberty، which indicates the desired effect of type، intensity، duration of activity in girl students inactive

One of cell- based technical issues associated with cartilage repair assay is delivering cells to the site of the parts where damage is created. Mesenchymal stem cells (MSCs) with their chondrogenic potential are ideal candidates for cartilage regeneration. High expression of cartilage hypertrophy markers by MSCs would result in apoptosis and ossification. This investigation is attempted to find out if paracrine factors secreted from MSCs can regenerate damaged articular in a rat model.

Materials & Methods

Osteoarthritis (OA) was induced in eighteen adult rats by intra- articular (IA) injection of monosodium iodoacetate (MIA) into right knee. Then the animals were randomly divided into three groups (n=6). Control group received IA injection of vehicle; MSCs group received a single IA injection of MSCs (2.5×105/50µL DMEM) and conditioned medium(CM) group received a single IA injection of CM، meanwhile six left intact knee joints were taken as the normal group. After four weeks، the animals were scarified by overdose injection of ketamine and then، the distal end of femur removed and fixed in formalin. After decalcification using formic acid، histological slides obtained. In this study number of chondrocytes and morphology of articular surface were evaluated.

Results

Four weeks after treatment، gross and microscopic evidence of articular cartilage of distal end of femur cartilage demonstrated the significant (p<0.05) healing of OA joints in group treated with MSCs. Also، in CM group significant increase in number of chondrocyte (p<0.05) and decrease of degenerated holes width was observed compared to the control group.

Conclusion

Given the deficiencies of cell-therapy in OA، a potential for repair of degenerated articular cartilage is thought possible to be represented by cell free CM

Pseudomonas aeruginosa is a gram-negative opportunistic pathogen and one of the mortality causes of nosocomial infections. One of the drug resistance mechanisms in P.aeruginosa is mutation in negative regulator genes of mexAB-oprM efflux pump system such as nalD. The aim of this study was to investigate the role of nalD mutations in P. aeruginosa isolates of Guilan province in ciprofloxacin resistant development.

Materials & Methods

In this study، 45 P. aeruginosa isolates were obtained from different clinical samples of Rasht and Lahijan hospitals and laboratories between 2014 to 2016 and identified by biochemical tests. Ciprofloxacin resistance and susceptibility of the strains was determined by disc difusion and MIC methods. PCR-sequencing was performed to assess nalD gene mutations in ciprofloxacin resistant strains.

Adult neurogenesis occurs in the two main areas of the brain of most mammalian species in; sub ventricular zone، and the dentate gyrus of the hippocampus. Many factors such as 17-β estradiol affect neurogenesis in the hippocampus. The aim of this study was to investigate the effect of exogenous 17-β estradiol on neurogenesis in the ovariectomized (OVX) mice.

Materials & Methods

NMRI mice were divided into five experimental groups: 1- Sham، 2- Control، 3- Treated with single dose of 17-β estradiol two weeks after ovariectomy and euthanized 24 hours later، 4- Treated with single dose of 17-β estradiol two weeks after OVX and euthanized 48 hours later، 5- Treated with single dose of Sesame Oil (vehicle) 2 weeks after OVX and euthanized after 24 hours. Animals were perfused transcardially with paraformaldehyde. Brains were removed and its sections for cresyl fast violet staining and Glial fibrillary acidic protein (GFAP) and BrdU immunohistochemistry were prepared. Cells were counted and investigated using light and fluorescent microscopy.

Results

Neuronal density and Proliferation of hippocampal progenitor cells in the CA1 region of 17-β estradiol -treated mice were significantly increased up to 24 hours. The density of astrocytes in different region of the hippocampus was significantly increased after treatment by 17-β estradiol.

Conclusion

Cell shape and density of hippocampal CA1 neurons are influenced by 17-β estradiol. In addition، density and morphology of glial cells، especially astrocytes in different regions of the hippocampus are affected by 17-β estradiol. Thus، 17-β estradiol can improve neurogenesis in the CA1 region of the hippocampus

Early detection and reliable differentiation of benign and malignant liver tumors could lead to improved cure rate and costs. Ultrasound image (US) is a convenient medical imaging method for interpreting liver tumors. Visual inspection of ultrasound images sometimes is combined with error and needs biopsy to confirm whether a tumor would be benign or malignant. The aim of this study is to explore the potential of computerize texture analysis methods for classifying benign and malignant liver tumors in US imaging.Methods and materials: The US image database comprised 38 liver patients (25 malignant and 13 benign).Up to 270 texture features parameters as descriptors computed for each selected region of interest (ROIs) under default normalization scheme. Two feature reduction

methods

Fisher and POE+ACC algorithms are applied to find the most effective features to differentiate benign from malignant liver. Obtained features parameters under two standardization states: standard (S) and nonstandard (NS) were used for texture analysis with PCA and LDA. Finally، Receiver Operating Characteristic (ROC) curve analysis was used via calculating sensitivity، specificity accuracy and Az value (area under the ROC curve) to examine the discrimination performance of applied texture analysis methods.

Results

The very excellent performance for discrimination between benign and malignant liver tumors was recorded for LDA with sensitivity of 98.7%، specificity of 100% and Az value of 1. Also، for PCA discrimination results has sensitivity of 98.6%، specificity of 100% and Az value of 0.99.

Conclusion

Our results indicates that texture analysis of the liver US images has potential to increase confidence of radiologist in classification of benign from malignant liver tumors

Behcet's disease (BD) is an autoimmune disease that usually occurs with oral، genital and ocular ulcers. The cause of this disease is unknown and environmental، genetic and immunological factors contribute to its development. In the present study، the relation between rs2910164 and rs57095329 polymorphisms of miR146a gene with the potential for BD was investigated in Iranian population.

Materials & Methods

In this case-control study، 100 patients with Behcet's disease and 100 Normal with no history of disease were studied as control. The polymorphism rs2910164 was determined by PCR-RFLP method using the MnlI enzyme، and the polymorphism rs57095329 was determined by the ARMS PCR method for genotype. The data were analyzed using SPSS version 22.

Results

The prevalence of GG genotype in rs2910164 polymorphism showed no significant difference between patient and control groups (p=0.156). The Frequency of the genotype AA was also not significantly different in the rs57095329 polymorphism in both patient and control groups (p=0.814).

Conclusion

In this study، there was no significant relationship between rs2910164 and rs57095329 polymorphisms and the potential for BD. Research on a greater number of patients can be effective

One of the most common causes of infertility in women is ovarian causes، especially polycystic ovary syndrome (PCOS). However، in patient with PCOS، the number of oocytes taken increased during the IVF، but these oocytes have often low quality، which ultimately leads to reduce fertilization potential. The aim of this research was investigation of PCOS on oocytes quality and potential of IVF and and evaluation of the effect of vitamin E supplementation to embryonic culture medium، as well.

Materials & Methods

In this experimental syudy100 female mice were divided into 2 groups: PCOS and control. To create an experimental PCOS stradiolvalerate injected itraperitonealy (100mg/kg). After 8 weeks IVF process was performed and the quality of oocytes، fertilization rate and embryo development process were evaluated. Finally، the effect of vitamin E with doses of 100، 200، 400 micromol، (p<0.05) were investigated in embryo culture.

Results

Comparison of results showed that experimental PCOS group showed a significant decreasein oocyte quality and fertilization، dualcell، blastocyst and significant increase in lysis and fragmentation in stopped embryos، on the other hand lysis and fragmentation، reduction of percentage and type of stopped embryos in presence of 100 and 200 micromole vitamin E concentrations were significantly in compare with PCOS group (p<0.05).Discussion &

Conclusion

Finally it can be concluded that experimental PCOS decreases the quality of oocytes and IVF and the addition of vitamin E to fetal culture medium as antioxidant can improve fertility